Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000450650 [[30945636, 30946102], [30953595, 30953652], [30954209, 30954265], [30955303, 30955432], [30957314, 30957390], [30959368, 30959495], [30960027, 30961159], [30961265, 30961323], [30964773, 30964830], [30965191, 30965225], [30966248, 30966384]] [[30961067, 30961159], [30961265, 30961323], [30964773, 30964830], [30965191, 30965225], [30966248, 30966384]]
ENST00000295055 [[30945636, 30946102], [30953595, 30953652], [30954209, 30954265], [30955303, 30955432], [30957314, 30957390], [30959368, 30959437], [30961100, 30961159], [30961265, 30961323], [30964773, 30964830], [30965191, 30965225], [30966248, 30966445], [30968588, 30968600], [30973968, 30974117], [30975918, 30976064], [30977155, 30977230], [30980911, 30981003], [30985947, 30986022], [30986997, 30987172], [30993178, 30993315], [30998795, 30998911], [31000432, 31000505], [31009993, 31010223], [31030167, 31030312]] [[30953625, 30953652], [30954209, 30954265], [30955303, 30955432], [30957314, 30957390], [30959368, 30959437], [30961100, 30961159], [30961265, 30961323], [30964773, 30964830], [30965191, 30965225], [30966248, 30966445], [30968588, 30968600], [30973968, 30974117], [30975918, 30976064], [30977155, 30977230], [30980911, 30981003], [30985947, 30986022], [30986997, 30987172], [30993178, 30993315], [30998795, 30998911], [31000432, 31000505], [31009993, 31010191]]
ENST00000534090 [[30945641, 30946102], [30953595, 30953652], [30954209, 30954265], [30955303, 30955432], [30957314, 30957390], [30959368, 30959437], [30961100, 30961159], [30961265, 30961323], [30964773, 30964830], [30965191, 30965225], [30966248, 30966450], [30966588, 30966595], [30973968, 30974117], [30975918, 30976064], [30977155, 30977230], [30980911, 30981003], [30985947, 30986022], [30986997, 30987172], [30993178, 30993315], [30998795, 30998911], [31000432, 31000505], [31009993, 31010223], [31030167, 31030311]] [[30953625, 30953652], [30954209, 30954265], [30955303, 30955432], [30957314, 30957390], [30959368, 30959437], [30961100, 30961159], [30961265, 30961323], [30964773, 30964830], [30965191, 30965225], [30966248, 30966450], [30966588, 30966595], [30973968, 30974117], [30975918, 30976064], [30977155, 30977230], [30980911, 30981003], [30985947, 30986022], [30986997, 30987172], [30993178, 30993315], [30998795, 30998911], [31000432, 31000505], [31009993, 31010191]]
ENST00000490786 [[30952406, 30952752], [30953595, 30953652], [30954209, 30954265], [30955303, 30955350]] None
ENST00000458085 [[30964239, 30964830], [30965191, 30965225], [30966248, 30966401], [30968588, 30968600], [30973968, 30974117], [30975918, 30976064], [30977155, 30977230], [30980911, 30981003], [30985947, 30986022], [30986997, 30987172], [30993178, 30993315], [30998795, 30998911], [31000432, 31000505], [31009993, 31010223], [31029046, 31029132], [31030167, 31030292]] [[30966377, 30966401], [30968588, 30968600], [30973968, 30974117], [30975918, 30976064], [30977155, 30977230], [30980911, 30981003], [30985947, 30986022], [30986997, 30987172], [30993178, 30993315], [30998795, 30998911], [31000432, 31000505], [31009993, 31010191]]
ENST00000465450 [[30966009, 30966445], [30968588, 30968600], [30973968, 30974092]] None
ENST00000465960 [[30980911, 30981003], [30985947, 30986022], [30986997, 30987172], [30993178, 30993315], [30998795, 30998911], [31000432, 31000505], [31009993, 31010223], [31030167, 31030413], [31043337, 31043408]] None
ENST00000485248 [[30987113, 30987172], [30993178, 30993315], [31000432, 31000505], [31009993, 31010223], [31029046, 31029132], [31030167, 31030292]] [[30993277, 30993315], [31000432, 31000505], [31009993, 31010191]]
NM_144575 [[30945636, 30946102], [30953595, 30953652], [30954209, 30954265], [30955303, 30955432], [30957314, 30957390], [30959368, 30959437], [30961100, 30961159], [30961265, 30961323], [30964773, 30964830], [30965191, 30965225], [30966248, 30966445], [30968588, 30968600], [30973968, 30974117], [30975918, 30976064], [30977155, 30977230], [30980911, 30981003], [30985947, 30986022], [30986997, 30987172], [30993178, 30993315], [30998795, 30998911], [31000432, 31000505], [31009993, 31010223], [31030167, 31030311]] [[30953625, 30953652], [30954209, 30954265], [30955303, 30955432], [30957314, 30957390], [30959368, 30959437], [30961100, 30961159], [30961265, 30961323], [30964773, 30964830], [30965191, 30965225], [30966248, 30966445], [30968588, 30968600], [30973968, 30974117], [30975918, 30976064], [30977155, 30977230], [30980911, 30981003], [30985947, 30986022], [30986997, 30987172], [30993178, 30993315], [30998795, 30998911], [31000432, 31000505], [31009993, 31010191]]
Promoter
Chrom Start End Description
chr2 31030277 31030317 CAGE_peak_1_at_CAPN13_5end
chr2 31043369 31043391 CAGE_peak_2_at_CAPN13_5end
chr2 31043402 31043413 CAGE_peak_3_at_CAPN13_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I030775 30775921 30778986 0.31 [{'connected_gene': 'CAPN13', 'score': 10.93}, {'connected_gene': 'ENSG00000234579', 'score': 9.43}, {'connected_gene': 'ENSG00000230118', 'score': 0.29}]
chr2 GH02I030771 30771255 30771404 0.38 [{'connected_gene': 'CAPN13', 'score': 10.72}, {'connected_gene': 'ENSG00000230118', 'score': 0.34}]
chr2 GH02I030782 30782295 30782424 0.2 [{'connected_gene': 'CAPN13', 'score': 10.95}, {'connected_gene': 'ENSG00000230118', 'score': 0.28}]
chr2 GH02I030807 30807055 30808142 1.07 [{'connected_gene': 'CAPN13', 'score': 550.39}, {'connected_gene': 'ENSG00000230118', 'score': 0.21}]
chr2 GH02I030810 30810395 30810544 0.49 [{'connected_gene': 'CAPN13', 'score': 0.39}, {'connected_gene': 'ENSG00000230118', 'score': 0.21}]
chr2 GH02I030796 30796835 30799408 0.51 [{'connected_gene': 'CAPN13', 'score': 11.32}, {'connected_gene': 'ENSG00000230118', 'score': 0.23}]
chr2 GH02I030756 30756075 30756224 0.87 [{'connected_gene': 'ENSG00000230118', 'score': 0.44}, {'connected_gene': 'CAPN13', 'score': 0.21}]
chr2 GH02I030763 30763415 30763564 0.2 [{'connected_gene': 'ENSG00000230118', 'score': 0.37}, {'connected_gene': 'CAPN13', 'score': 0.22}]
chr2 GH02I030747 30747335 30747484 0.59 [{'connected_gene': 'ENSG00000230118', 'score': 550.77}, {'connected_gene': 'CAPN13', 'score': 0.19}]

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